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61764000: Homocarnosinase deficiency (disorder)


Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jan 2002. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module
102638014 Homocarnosinase deficiency en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
102639018 Homocarnosinosis en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
800862016 Homocarnosinase deficiency (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
102638014 Homocarnosinase deficiency en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core
102638014 Homocarnosinase deficiency en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
102639018 Homocarnosinosis en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core
102639018 Homocarnosinosis en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
800862016 Homocarnosinase deficiency (disorder) en Fully specified name Active Only initial character case insensitive (core metadata concept) SNOMED CT core
800862016 Homocarnosinase deficiency (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
4592551000241116 déficit en homocarnosinase fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
4592551000241116 déficit en homocarnosinase fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module


0 descendants.

Expanded Value Set


Outbound Relationships Type Target Active Characteristic Refinability Group Values
Homocarnosinase deficiency Is a Disorder of beta alanine, carnosine AND/OR homocarnosine metabolism true Inferred relationship Existential restriction modifier (core metadata concept)
Homocarnosinase deficiency Is a Enzymopathy true Inferred relationship Existential restriction modifier (core metadata concept)
Homocarnosinase deficiency Finding site Body system structure false Inferred relationship Existential restriction modifier (core metadata concept)
Homocarnosinase deficiency Is a Disorder of gamma-aminobutyric acid metabolism (disorder) true Inferred relationship Existential restriction modifier (core metadata concept)

Inbound Relationships Type Active Source Characteristic Refinability Group

This concept is not in any reference sets

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